NBPF10
NBPF10[edit | edit source]
NBPF10 (Neuroblastoma Breakpoint Family Member 10) is a gene that encodes a protein belonging to the neuroblastoma breakpoint family of proteins. This family is characterized by the presence of multiple copies of DUF1220 domains, which are thought to play a role in human brain evolution and development.
Gene Location and Structure[edit | edit source]
NBPF10 is located on chromosome 1q21.1, a region known for its high density of segmental duplications and genetic variability. The gene is part of a larger family of NBPF genes, which are clustered in this region. The NBPF10 gene consists of multiple exons and is subject to alternative splicing, resulting in different transcript variants.
Function[edit | edit source]
The exact function of the NBPF10 protein is not fully understood, but it is believed to be involved in brain development and function due to its expression pattern and the presence of DUF1220 domains. These domains are highly expanded in humans compared to other primates, suggesting a role in the evolution of human-specific cognitive abilities.
Clinical Significance[edit | edit source]
Alterations in the NBPF10 gene and other members of the NBPF family have been associated with neurodevelopmental disorders, including autism spectrum disorders and schizophrenia. The 1q21.1 region, where NBPF10 is located, is also implicated in various genomic disorders due to its susceptibility to copy number variations (CNVs).
Research and Studies[edit | edit source]
Research on NBPF10 and its family members is ongoing, with studies focusing on their role in brain development, evolutionary biology, and their potential involvement in neurological disorders. The expansion of DUF1220 domains in humans is a particular area of interest, as it may provide insights into the genetic basis of human brain size and complexity.
Also see[edit | edit source]
- Neuroblastoma
- DUF1220
- Chromosome 1q21.1 deletion syndrome
- Copy number variation
- Autism spectrum disorder
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